Canonical Allele Identifier: CA224077108

Gene: BBS1 ZDHHC24

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66523538G>A , CM000673.2:g.66523538G>A	GRCh38
NC_000011.9:g.66291009G>A , CM000673.1:g.66291009G>A	GRCh37
NC_000011.8:g.66047585G>A	NCBI36
NG_009093.1:g.17891G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_024649.5:c.913G>A (BBS1) MANE Select	NP_078925.3:p.Gly305Ser
ENST00000318312.12:c.913G>A (BBS1) MANE Select	ENSP00000317469.7:p.Gly305Ser
NM_001348571.1:c.*22-2072C>T (ZDHHC24)	NP_001335500.1:n.*22-2072C>T
NM_001348571.2:c.*22-2072C>T (ZDHHC24)	NP_001335500.1:n.*22-2072C>T
NM_024649.4:c.913G>A (BBS1)	NP_078925.3:p.Gly305Ser
ENST00000318312.11:c.913G>A (BBS1)	ENSP00000317469.7:p.Gly305Ser
ENST00000393994.4:c.724-2585G>A (BBS1)	ENSP00000377563.2:n.724-2585G>A
ENST00000419755.3:c.1024G>A	ENSP00000398526.3:p.Gly342Ser
ENST00000455748.6:c.622G>A (BBS1)	ENSP00000405764.2:p.Gly208Ser
ENST00000526760.5:c.*620G>A (BBS1)	ENSP00000432140.1:n.*620G>A
ENST00000526986.5:c.*22-2072C>T (ZDHHC24)	ENSP00000431321.1:n.*22-2072C>T
ENST00000527959.1:n.57G>A (BBS1)
ENST00000529766.5:n.920G>A (BBS1)
ENST00000529895.1:n.362G>A (BBS1)
ENST00000529955.5:n.884G>A (BBS1)
ENST00000532908.5:c.*573G>A (BBS1)	ENSP00000431866.1:n.*573G>A
ENST00000534073.5:c.*143+617C>T (ZDHHC24)	ENSP00000436503.1:n.*143+617C>T
ENST00000630659.2:c.*620G>A (BBS1)	ENSP00000486455.1:n.*620G>A
XM_005273874.3:c.*22-2072C>T (ZDHHC24)	XP_005273931.1:n.*22-2072C>T
XM_005273874.4:c.*22-2072C>T (ZDHHC24)	XP_005273931.1:n.*22-2072C>T
XR_001747823.2:n.862+617C>T (ZDHHC24)
XR_949860.1:n.808+617C>T (ZDHHC24)
XR_949860.3:n.933+617C>T (ZDHHC24)